Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.P957insFs
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NR3C2

NM_000901.5:p.P957insFs

Associated Papers

A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.

Kawashima Sonoyama Y et al.

Endocrine Journal, 2017

Molecular pathogenesis of renal pseudohypoaldosteronism type 1.

Riepe FG

Expert Review of Endocrinology & Metabolism, 2007

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

Riepe FG et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity.

Riepe FG et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Development and Diseases of the Collecting Duct System.

Chen L et al.

Results and Problems in Cell Differentiation, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."